Rapid review Flashcards
Abdominal pain, ascites, hepatomegaly
Budd-Chiari syndrome
Achilles tendon xanthoma
Familial hypercholesterolemia (decrease LDL receptor signaling)
Adrenal hemorrhage, hypotension, DIC
Waterhouse-Friderichsen syndrome (meningococcemia)
Athlete with polycythemia
Secondary to erythropoietin injection
Back pain, fever, night sweat, weight loss
Pott disease
Bilateral hilar adenopathy, uveitis
Sarcoidosis
Blue sclera
Osteogenesis imperfecta (type 1 collagen defect)
Bluish line on gingiva
Burton line (lead poisoning)
Bone pain, bone enlargement, arthritis
Paget disease of bone
Bounding pulse, diastolic heart murmur, head bobbing
Aortic regurgitation
Butterfly facial rash with Raynaud in young female
SLE
Café-au-lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities
McCune-Albright syndrome (mosaid G-protein signaling mutation)
Gowers sign
Child uses arm to stand up from squat seen in Duchenne muscular dystrophy
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria
McArdle disease
Deep, labored breathing/hyperventilation
Kussmaul respiration seen in Diabetic ketoacidosis
Dilatd cardiomyopathy, edema, alcoholism or malnutrition
Wet beriberi (Thiamine deficiency)
Dysphagia, glossitis, iron deficiency anemia
Plummer-Vinson
Erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells (2)
- Mycosis fungoides (cutaneous T-cell Lymphoma)
- Sézary syndrome (Mycosis fungoides + malignant T cells in blood)
Fever, chills, headache, myalgia follwing antibiotic treatment for syphilis
Jarisch-Herxheimer reaction
Fibrous plaques in soft tissue of penis
Peyronie disease
Hamartomatous GI polyps, hyperpigmentation of mouth/feet/hands
Peutz-Jeghers syndrome
Hepatosplenomegaly, osteoporosis, neurologic symptoms
Goucher (glucocerebrosidase deficiency)
Hereditary nephritis, sensorineural hearing loss, cataracts
Alpot syndrome
Male child, recurrent infections, no mature B cells
Bruton disease (x-linked agammaglobulinemia)
Mucosal bleeding and prolonged BT
Glanzmann thrombasthenia (defect in platelet aggregation due to lack of Gp2b/3a)
Myopathy (infantile hypertorphic cardiomyopathy), exercise intolerance
Pompe
Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia
MS
Palpable purpura on buttocks/legs, joint pain, abdominal pain, hematuria
Henoch-Schönlein purpura (IgA vasculitis affecting skin and kidney)
Pruritic, purple, polygonal planar papules and plaques
Lichen planus